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Author Details

William C Skarnes
Wellcome Trust Sanger Institute
1986
111
58
PMIDPaper TitleJournal TitlePublished Year
37398081Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.bioRxiv2023
37670157Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
37961213Human iPSC-derived microglia sense and dampen hyperexcitability of cortical neurons carrying the epilepsy-associated SCN2A-L1342P mutation.bioRxiv2023
37976651Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia.Stem Cell Res2023
37924815Generation of glucocorticoid-producing cells derived from human pluripotent stem cells.Cell Rep Methods2023
37532928Africa-specific human genetic variation near CHD1L associates with HIV-1 load.Nature2023
36459969A reference human induced pluripotent stem cell line for large-scale collaborative studies.Cell Stem Cell2022
33369088Generation and basic characterization of a gene-trap knockout mouse model of Scn2a with a substantial reduction of voltage-gated sodium channel Na<sub>v</sub> 1.2 expression.Genes Brain Behav2021
33831364Tackling neurodegenerative diseases with genomic engineering: A new stem cell initiative from the NIH.Neuron2021
34716231Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.J Neurosci2021
34348148Severe deficiency of the voltage-gated sodium channel Na<sub>V</sub>1.2 elevates neuronal excitability in adult mice.Cell Rep2021
34059832Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway.Nat Neurosci2021
32442532A Novel Chemically Differentiated Mouse Embryonic Stem Cell-Based Model to Study Liver Stages of Plasmodium berghei.Stem Cell Reports2020
31819956Loss of IL-10 signaling in macrophages limits bacterial killing driven by prostaglandin E2.J Exp Med2020
31216442Improving homology-directed repair efficiency in human stem cells.Methods2019
29600991Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo".Nat Methods2018
28533524Enhancing the genome editing toolbox: genome wide CRISPR arrayed libraries.Sci Rep2017
28440293Exploiting induced pluripotent stem cell-derived macrophages to unravel host factors influencing Chlamydia trachomatis pathogenesis.Nat Commun2017
28135257One-step generation of conditional and reversible gene knockouts.Nat Methods2017
28096221Efficient CRISPR/Cas9-assisted gene targeting enables rapid and precise genetic manipulation of mammalian neural stem cells.Development2017
29026089A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.Nat Commun2017
28981838An efficient method for generation of bi-allelic null mutant mouse embryonic stem cells and its application for investigating epigenetic modifiers.Nucleic Acids Res2017
29144450Corrigendum: High-throughput discovery of novel developmental phenotypes.Nature2017
28811661Myst2/Kat7 histone acetyltransferase interaction proteomics reveals tumour-suppressor Niam as a novel binding partner in embryonic stem cells.Sci Rep2017
28650483Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.Nat Genet2017
26952987The BAF chromatin remodelling complex is an epigenetic regulator of lineage specification in the early mouse embryo.Development2016
26524115Cardiomyocytes from human pluripotent stem cells: From laboratory curiosity to industrial biomedical platform.Biochim Biophys Acta2016
27580957CRISPR-Cas9 enables conditional mutagenesis of challenging loci.Sci Rep2016
27626380High-throughput discovery of novel developmental phenotypes.Nature2016
25752829Conditional-ready mouse embryonic stem cell derived macrophages enable the study of essential genes in macrophage function.Sci Rep2015
27325708ZFP57 and the Targeted Maintenance of Postfertilization Genomic Imprints.Cold Spring Harb Symp Quant Biol2015
26701933Over-expression of Plk4 induces centrosome amplification, loss of primary cilia and associated tissue hyperplasia in the mouse.Open Biol2015
26020497Off-target mutations are rare in Cas9-modified mice.Nat Methods2015
26013980Is mouse embryonic stem cell technology obsolete?Genome Biol2015
25979474WGE: a CRISPR database for genome engineering.Bioinformatics2015
24194600The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.Nucleic Acids Res2014
24584192Efficient genome modification by CRISPR-Cas9 nickase with minimal off-target effects.Nat Methods2014
23870131Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.Cell2013
23912999Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource.Mamm Genome2013
22578120Building and sharing resources. Interview by Krystie Nybo.Biotechniques2012
22968824The mammalian gene function resource: the International Knockout Mouse Consortium.Mamm Genome2012
22991088Accessing data from the International Mouse Phenotyping Consortium: state of the art and future plans.Mamm Genome2012
22961258Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project.Mamm Genome2012
22912678Large-scale identification of microRNA targets in murine Dgcr8-deficient embryonic stem cell lines.PLoS One2012
22912667MiR-25 regulates Wwp2 and Fbxw7 and promotes reprogramming of mouse fibroblast cells to iPSCs.PLoS One2012
20929875The IKMC web portal: a central point of entry to data and resources from the International Knockout Mouse Consortium.Nucleic Acids Res2011
22020067A scalable pipeline for highly effective genetic modification of a malaria parasite.Nat Methods2011
21930507BioMart Central Portal: an open database network for the biological community.Database (Oxford)2011
21930503BioMart as an integration solution for the International Knockout Mouse Consortium.Database (Oxford)2011
21677750A conditional knockout resource for the genome-wide study of mouse gene function.Nature2011
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Collaborators

The Wellcome Trust Sanger Institute
Co-authored papers 13
Mary Lyon Centre Harwell Science and Innovation Campus Oxfordshire UK.
Co-authored papers 11
Institute of Developmental Genetics, German Research Center for Environmental Health
Co-authored papers 10
University of California davis
Co-authored papers 8
German Center for Diabetes Research (DZD e.V.)
Co-authored papers 8
European Molecular Biology Laboratory - European Bioinformatics Institute
Co-authored papers 8
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 7
Co-authored papers 7
The Turing Institute
Co-authored papers 7
Wellcome Trust Sanger Institute
Co-authored papers 6
Institut Clinique de la Souris (ICS), Universite de Strasbourg, CNRS, INSERM
Co-authored papers 6
Wellcome Sanger Institute
Co-authored papers 6
European Bioinformatics Institute
Co-authored papers 6
The Hospital for Sick Children
Co-authored papers 6
European Bioinformatics Institute
Co-authored papers 6
Monterotondo Mouse Clinic (MMC), Italian National Research Council (CNR)
Co-authored papers 6
The Hospital for Sick Children
Co-authored papers 5
Baylor College of Medicine
Co-authored papers 5
Mary Lyon Centre at Medical Research Council
Co-authored papers 5
Center for Molecular and Cellular Bioengineering, Technische Universitat Dresden
Co-authored papers 5
The Hospital for Sick Children
Co-authored papers 5
Wellcome Sanger Institute
Co-authored papers 5
The Hospital for Sick Children
Co-authored papers 5
European Bioinformatics Institute
Co-authored papers 5
Ottawa Hospital Research Institute
Co-authored papers 4
European Bioinformatics Institute
Co-authored papers 4
Columbia University.
Co-authored papers 4
Co-authored papers 4
Gladstone Institutes
Co-authored papers 4
Children's Hospital Oakland Research Institute
Co-authored papers 4